A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20108



Internal ID15830996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48010002..48011234hg38UCSC Ensembl
Outerchr10:48008423..48011635hg38UCSC Ensembl
Innerchr10:49218027..49219259hg19UCSC Ensembl
Outerchr10:49216447..49219660hg19UCSC Ensembl
Innerchr10:48888033..48889265hg18UCSC Ensembl
Outerchr10:48886453..48889666hg18UCSC Ensembl
Innerchr10:48888033..48889265hg17UCSC Ensembl
Outerchr10:48886453..48889666hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383213
hg193214
hg183214
hg173214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA12155
Known GenesCTGLF12P
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv20108
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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